A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469483



Internal ID15529548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78085837..78109986hg38UCSC Ensembl
Innerchr12:78479617..78503766hg19UCSC Ensembl
Innerchr12:77003748..77027897hg18UCSC Ensembl
Innerchr12:76982085..77006234hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3824150
hg1924150
hg1824150
hg1724150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv206n27
Supporting Variantsnssv544341
Samples1780862176_A
Known GenesNAV3
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv469483
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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